Homozygous form of the Pelger-Huët leukocyte anomaly in man.
A report on a new case of Pelger-Huët (PH) leukocyte anomaly in the homozygous form in an 18-month-old girl is presented. Clinically, the proband shows no special symptoms dependent on the leukocyte anomaly, but polydactyly affects both hands (six fingers on one hand) and feet (six toes on both feet). Her pedigree reveals the existence of three couples in which both husband and wife are heterozygous carriers of the PH anomaly. Study of the family lineage suggests that transmission of the leukocyte anomaly is prevailingly dominant in nature with complete penetration and variable expression.
D005260:Female; D005385:Fingers / Q000002:abnormalities; D005799:Genes, Dominant; D006720:Homozygote; D006801:Humans; D007223:Infant; D009504:Neutrophils / Q000473:pathology; D010375:Pedigree; D010381:Pelger-Huet Anomaly / Q000097:blood / Q000235:genetics*; D014034:Toes / Q000002:abnormalities